Mutagenetix > Incidental Mutation

Incidental Mutation 'R5795:Zfp316'

447169

Institutional Source

Beutler Lab

Gene Symbol

Zfp316

Ensembl Gene

ENSMUSG00000046658

Gene Name

zinc finger protein 316

Synonyms

Emzf1

MMRRC Submission

043386-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

R5795 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143235452-143255777 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143248594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 217 (D217E)

Ref Sequence

ENSEMBL: ENSMUSP00000125416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051665] [ENSMUST00000161448]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000051665
AA Change: D217E

SMART Domains

Protein: ENSMUSP00000059418
Gene: ENSMUSG00000046658
AA Change: D217E

Domain	Start	End	E-Value	Type
low complexity region	30	68	N/A	INTRINSIC
low complexity region	74	88	N/A	INTRINSIC
low complexity region	134	147	N/A	INTRINSIC
KRAB	155	215	4.31e-37	SMART
low complexity region	239	262	N/A	INTRINSIC
ZnF_C2H2	341	363	1.58e-3	SMART
ZnF_C2H2	369	391	1.45e-2	SMART
ZnF_C2H2	397	419	6.88e-4	SMART
ZnF_C2H2	425	447	3.63e-3	SMART
ZnF_C2H2	453	475	1.2e-3	SMART
ZnF_C2H2	481	501	2.17e1	SMART
low complexity region	524	558	N/A	INTRINSIC
low complexity region	568	584	N/A	INTRINSIC
low complexity region	649	664	N/A	INTRINSIC
low complexity region	691	707	N/A	INTRINSIC
ZnF_C2H2	708	730	1.2e-3	SMART
ZnF_C2H2	736	758	3.58e-2	SMART
ZnF_C2H2	764	786	1.45e-2	SMART
ZnF_C2H2	792	814	1.99e0	SMART
ZnF_C2H2	820	842	2.82e0	SMART
ZnF_C2H2	848	870	7.9e-4	SMART
ZnF_C2H2	876	898	1.45e-2	SMART
ZnF_C2H2	904	926	9.88e-5	SMART
ZnF_C2H2	932	954	2.09e-3	SMART
low complexity region	964	990	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000161448
AA Change: D217E

SMART Domains

Protein: ENSMUSP00000125416
Gene: ENSMUSG00000046658
AA Change: D217E

Domain	Start	End	E-Value	Type
low complexity region	30	68	N/A	INTRINSIC
low complexity region	74	88	N/A	INTRINSIC
low complexity region	134	147	N/A	INTRINSIC
KRAB	155	215	4.31e-37	SMART
low complexity region	239	262	N/A	INTRINSIC
ZnF_C2H2	341	363	1.58e-3	SMART
ZnF_C2H2	369	391	1.45e-2	SMART
ZnF_C2H2	397	419	6.88e-4	SMART
ZnF_C2H2	425	447	3.63e-3	SMART
ZnF_C2H2	453	475	1.2e-3	SMART
ZnF_C2H2	481	501	2.17e1	SMART
low complexity region	524	558	N/A	INTRINSIC
low complexity region	568	584	N/A	INTRINSIC
low complexity region	649	664	N/A	INTRINSIC
low complexity region	691	707	N/A	INTRINSIC
ZnF_C2H2	708	730	1.2e-3	SMART
ZnF_C2H2	736	758	3.58e-2	SMART
ZnF_C2H2	764	786	1.45e-2	SMART
ZnF_C2H2	792	814	1.99e0	SMART
ZnF_C2H2	820	842	2.82e0	SMART
ZnF_C2H2	848	870	7.9e-4	SMART
ZnF_C2H2	876	898	1.45e-2	SMART
ZnF_C2H2	904	926	9.88e-5	SMART
ZnF_C2H2	932	954	2.09e-3	SMART
low complexity region	964	990	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp3	A	G	9: 104,186,688 (GRCm39)	V261A	probably benign	Het
Adipor1	C	A	1: 134,352,641 (GRCm39)	N137K	probably damaging	Het
Ahnak	A	T	19: 8,989,746 (GRCm39)	K3677*	probably null	Het
Ankrd24	C	A	10: 81,480,937 (GRCm39)		probably benign	Het
Appl1	G	T	14: 26,664,773 (GRCm39)	P420Q	probably benign	Het
Bmp8b	C	A	4: 123,015,761 (GRCm39)	F249L	possibly damaging	Het
Brat1	G	T	5: 140,698,827 (GRCm39)	A275S	probably benign	Het
C5ar1	T	C	7: 15,982,319 (GRCm39)	K234E	possibly damaging	Het
Cblif	A	G	19: 11,737,740 (GRCm39)	T384A	probably damaging	Het
Ccs	A	G	19: 4,883,367 (GRCm39)		probably null	Het
Chmp5	T	G	4: 40,950,562 (GRCm39)		probably null	Het
Chrna3	T	A	9: 54,922,552 (GRCm39)	T419S	probably benign	Het
Crocc	TCTGAGCTGCTGAGCTGC	TCTGAGCTGC	4: 140,769,118 (GRCm39)		probably null	Het
Csf3	G	T	11: 98,592,853 (GRCm39)	C72F	probably damaging	Het
Dbndd1	A	G	8: 124,236,619 (GRCm39)	I83T	probably damaging	Het
Ercc6	A	G	14: 32,248,309 (GRCm39)	K287E	probably damaging	Het
F5	C	T	1: 163,979,578 (GRCm39)	T16I	probably benign	Het
Hephl1	C	T	9: 14,981,056 (GRCm39)	G792E	probably damaging	Het
Hmmr	T	A	11: 40,612,733 (GRCm39)	D158V	probably damaging	Het
Hsd11b1	A	G	1: 192,922,940 (GRCm39)	S76P	possibly damaging	Het
Ilvbl	T	C	10: 78,412,978 (GRCm39)	S167P	probably benign	Het
Irf7	G	A	7: 140,845,029 (GRCm39)	P118L	probably damaging	Het
Lama1	A	G	17: 68,103,722 (GRCm39)	N1981S	probably benign	Het
Lrp4	A	G	2: 91,304,816 (GRCm39)	D224G	probably benign	Het
Mink1	T	C	11: 70,498,616 (GRCm39)	Y594H	possibly damaging	Het
Minpp1	G	A	19: 32,491,557 (GRCm39)	V412M	probably damaging	Het
Muc5b	G	A	7: 141,425,478 (GRCm39)	V4708M	possibly damaging	Het
Mycl	G	A	4: 122,890,415 (GRCm39)	E34K	probably damaging	Het
Oaf	T	A	9: 43,135,241 (GRCm39)	D179V	probably damaging	Het
Ogfod2	G	A	5: 124,252,824 (GRCm39)	G278D	probably damaging	Het
Or2h1	A	G	17: 37,404,661 (GRCm39)	L35P	probably damaging	Het
Or5b12	A	G	19: 12,897,188 (GRCm39)	F162L	possibly damaging	Het
Paf1	T	G	7: 28,096,043 (GRCm39)	M250R	probably damaging	Het
Pcdh8	T	C	14: 80,008,420 (GRCm39)	T48A	possibly damaging	Het
Pdzph1	A	G	17: 59,192,862 (GRCm39)	V1096A	possibly damaging	Het
Polr3b	T	C	10: 84,512,875 (GRCm39)	S586P	probably damaging	Het
Polr3b	A	T	10: 84,464,116 (GRCm39)	E25D	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Het
Slc28a2b	T	C	2: 122,348,475 (GRCm39)	M274T	possibly damaging	Het
Slc31a2	T	C	4: 62,215,289 (GRCm39)	V112A	probably damaging	Het
Spire1	A	T	18: 67,628,265 (GRCm39)	S412T	probably benign	Het
Tanc1	A	G	2: 59,637,926 (GRCm39)	T876A	possibly damaging	Het
Tango6	T	A	8: 107,444,709 (GRCm39)	L538H	probably damaging	Het
Tas2r125	G	A	6: 132,886,621 (GRCm39)	G3D	probably damaging	Het
Tbc1d32	A	T	10: 56,091,158 (GRCm39)	M125K	possibly damaging	Het
Traf5	T	C	1: 191,731,807 (GRCm39)	S345G	probably benign	Het
Ush2a	A	T	1: 188,175,594 (GRCm39)	I1231F	probably benign	Het
Vmn2r104	G	T	17: 20,250,372 (GRCm39)	T633N	probably benign	Het
Vmn2r104	A	G	17: 20,250,544 (GRCm39)	S576P	possibly damaging	Het
Vmn2r105	A	T	17: 20,448,998 (GRCm39)	C60S	probably benign	Het
Zfp456	A	T	13: 67,515,039 (GRCm39)	D222E	probably benign	Het

Other mutations in Zfp316

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01304:Zfp316	APN	5	143,240,181 (GRCm39)	missense	probably benign	0.00
IGL01783:Zfp316	APN	5	143,248,631 (GRCm39)	missense	unknown
R0415:Zfp316	UTSW	5	143,250,246 (GRCm39)	missense	unknown
R0423:Zfp316	UTSW	5	143,238,993 (GRCm39)	missense	probably damaging	0.98
R1576:Zfp316	UTSW	5	143,249,849 (GRCm39)	missense	unknown
R1579:Zfp316	UTSW	5	143,239,317 (GRCm39)	missense	probably damaging	0.97
R1836:Zfp316	UTSW	5	143,239,178 (GRCm39)	missense	probably damaging	1.00
R2058:Zfp316	UTSW	5	143,249,161 (GRCm39)	missense	unknown
R4004:Zfp316	UTSW	5	143,240,874 (GRCm39)	missense	possibly damaging	0.86
R4198:Zfp316	UTSW	5	143,240,226 (GRCm39)	missense	probably benign	0.05
R4436:Zfp316	UTSW	5	143,239,803 (GRCm39)	missense	probably damaging	1.00
R4961:Zfp316	UTSW	5	143,239,169 (GRCm39)	missense	probably damaging	0.98
R5579:Zfp316	UTSW	5	143,250,246 (GRCm39)	missense	unknown
R5642:Zfp316	UTSW	5	143,249,846 (GRCm39)	missense	unknown
R5701:Zfp316	UTSW	5	143,240,132 (GRCm39)	missense	probably benign	0.08
R5861:Zfp316	UTSW	5	143,249,095 (GRCm39)	missense	unknown
R5965:Zfp316	UTSW	5	143,250,427 (GRCm39)	splice site	probably null
R6414:Zfp316	UTSW	5	143,240,639 (GRCm39)	missense	possibly damaging	0.71
R6547:Zfp316	UTSW	5	143,239,952 (GRCm39)	missense	probably damaging	1.00
R6922:Zfp316	UTSW	5	143,239,280 (GRCm39)	missense	probably damaging	0.98
R7002:Zfp316	UTSW	5	143,249,110 (GRCm39)	missense	unknown
R7361:Zfp316	UTSW	5	143,240,430 (GRCm39)	missense	probably benign	0.01
R7414:Zfp316	UTSW	5	143,250,407 (GRCm39)	missense	unknown
R7693:Zfp316	UTSW	5	143,249,167 (GRCm39)	missense	unknown
R8749:Zfp316	UTSW	5	143,248,565 (GRCm39)	missense	unknown
R9368:Zfp316	UTSW	5	143,250,046 (GRCm39)	critical splice donor site	probably null
R9471:Zfp316	UTSW	5	143,241,161 (GRCm39)	missense	unknown
R9670:Zfp316	UTSW	5	143,240,348 (GRCm39)	missense	possibly damaging	0.86
X0022:Zfp316	UTSW	5	143,240,811 (GRCm39)	missense	probably damaging	0.99
Z1177:Zfp316	UTSW	5	143,239,313 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ATGAGGACTTGGGAGCTGAC -3'
(R):5'- GATCTCTAAGCATAGGTGGCGG -3'

Sequencing Primer
(F):5'- CTGACAGCAGGGACTAGCAC -3'
(R):5'- CTAAGCATAGGTGGCGGGAAGG -3'

Posted On

2016-12-15